Canonical Allele Identifier: CA5902462

Gene: ABCC8

Linked Data

• dbSNP Id: rs140599332
• ExAC: 11:17415862 G / C
• gnomAD v3: 11-17394315-G-C
• gnomAD v4: 11-17394315-G-C
• MyVariant Identifiers: chr11:g.17415862G>C (hg19) ; chr11:g.17394315G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394315G>C , CM000673.2:g.17394315G>C	GRCh38
NC_000011.9:g.17415862G>C , CM000673.1:g.17415862G>C	GRCh37
NC_000011.8:g.17372438G>C	NCBI36
NG_008867.1:g.87588C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4097C>G
ENST00000526037.6:n.431C>G
ENST00000528374.2:c.1087C>G
ENST00000529967.6:n.2835C>G
ENST00000532220.2:n.3729C>G
ENST00000642611.2:n.5829C>G
ENST00000644057.2:n.1072C>G
ENST00000645004.2:n.1995C>G
ENST00000682051.1:n.4658C>G
ENST00000682110.1:n.4711C>G
ENST00000682140.1:c.*282C>G	ENSP00000507829.1:n.*282C>G
ENST00000682185.1:n.5801C>G
ENST00000682204.1:c.*2634C>G	ENSP00000507094.1:n.*2634C>G
ENST00000682215.1:n.5078C>G
ENST00000682288.1:c.*2927C>G	ENSP00000507506.1:n.*2927C>G
ENST00000682442.1:n.4931C>G
ENST00000682528.1:n.4788C>G
ENST00000682673.1:n.4655C>G
ENST00000682805.1:n.5116C>G
ENST00000682965.1:c.*918C>G	ENSP00000508229.1:n.*918C>G
ENST00000683093.1:n.5691C>G
ENST00000683136.1:c.4379C>G	ENSP00000507768.1:p.Thr1460Ser
ENST00000683153.1:n.4753C>G
ENST00000683365.1:n.4813C>G
ENST00000683377.1:n.4607C>G
ENST00000683456.1:c.*1633C>G	ENSP00000508318.1:n.*1633C>G
ENST00000683522.1:n.4793C>G
ENST00000683562.1:c.*2561C>G	ENSP00000508265.1:n.*2561C>G
ENST00000683693.1:n.6172C>G
ENST00000683725.1:c.4392C>G	ENSP00000507496.1:p.Asp1464Glu
ENST00000684010.1:n.4706C>G
ENST00000684014.1:n.683C>G
ENST00000684157.1:n.5696C>G
ENST00000684253.1:n.4614C>G
ENST00000684288.1:c.*2668C>G	ENSP00000507143.1:n.*2668C>G
ENST00000684313.1:n.4143C>G
ENST00000684332.1:n.4784C>G
ENST00000684371.1:n.4817C>G
ENST00000684404.1:n.5739C>G
ENST00000684442.1:n.4935C>G
ENST00000684555.1:c.*2708C>G	ENSP00000507705.1:n.*2708C>G
ENST00000684571.1:c.4337C>G	ENSP00000506935.1:p.Thr1446Ser
ENST00000684593.1:c.*4201C>G	ENSP00000507005.1:n.*4201C>G
ENST00000684711.1:c.*2892C>G	ENSP00000506841.1:n.*2892C>G
ENST00000302539.9:c.4499C>G	ENSP00000303960.4:p.Thr1500Ser
ENST00000389817.8:c.4496C>G MANE Select	ENSP00000374467.4:p.Thr1499Ser
ENST00000642271.1:c.4493C>G	ENSP00000493749.1:p.Thr1498Ser
ENST00000642579.1:c.2550C>G
ENST00000642611.1:n.5714C>G
ENST00000642902.1:c.4278C>G
ENST00000643260.1:c.4496C>G	ENSP00000494450.1:p.Thr1499Ser
ENST00000643562.1:c.*2618C>G	ENSP00000496124.1:n.*2618C>G
ENST00000643925.1:c.3136C>G
ENST00000644057.1:n.655C>G
ENST00000644484.1:c.*3882C>G	ENSP00000493558.1:n.*3882C>G
ENST00000644675.1:c.*2668C>G	ENSP00000494567.1:n.*2668C>G
ENST00000644757.1:c.*3203-1335C>G	ENSP00000495085.1:n.*3203-1335C>G
ENST00000644772.1:c.4562C>G	ENSP00000494321.1:p.Thr1521Ser
ENST00000645004.1:n.2189C>G
ENST00000645076.1:c.3591C>G
ENST00000645417.1:c.1684C>G
ENST00000645744.1:c.*4181C>G	ENSP00000494564.1:n.*4181C>G
ENST00000645760.1:c.4917C>G
ENST00000645884.1:c.*1779C>G	ENSP00000495516.1:n.*1779C>G
ENST00000646003.1:c.*2518C>G	ENSP00000495259.1:n.*2518C>G
ENST00000646207.1:c.*3333C>G	ENSP00000495025.1:n.*3333C>G
ENST00000646276.1:c.*3900C>G	ENSP00000496070.1:n.*3900C>G
ENST00000646592.1:c.3802C>G
ENST00000646902.1:c.4463C>G	ENSP00000494101.1:p.Thr1488Ser
ENST00000646993.1:c.*2934C>G	ENSP00000493720.1:n.*2934C>G
ENST00000647013.1:c.4502C>G	ENSP00000496741.1:n.4502C>G
ENST00000647015.1:c.4247C>G	ENSP00000495389.1:p.Thr1416Ser
ENST00000647086.1:c.*4082C>G	ENSP00000493677.1:n.*4082C>G
ENST00000647158.1:c.*2783C>G	ENSP00000495744.1:n.*2783C>G
ENST00000302539.8:c.4499C>G	ENSP00000303960.4:p.Thr1500Ser
ENST00000389817.7:c.4496C>G	ENSP00000374467.3:p.Thr1499Ser
ENST00000525022.1:n.391C>G
ENST00000526037.5:n.256C>G
ENST00000526168.5:c.284C>G
ENST00000531642.5:c.527C>G
NM_000352.4:c.4496C>G	NP_000343.2:p.Thr1499Ser
NM_001287174.1:c.4499C>G	NP_001274103.1:p.Thr1500Ser
XM_011520331.1:c.4496C>G	XP_011518633.1:p.Thr1499Ser
XM_011520332.1:c.4395C>G	XP_011518634.1:p.Asp1465Glu
XM_011520333.1:c.2996C>G	XP_011518635.1:p.Thr999Ser
XR_930890.1:n.4458C>G
NM_001351295.1:c.4562C>G	NP_001338224.1:p.Thr1521Ser
NM_001351296.1:c.4496C>G	NP_001338225.1:p.Thr1499Ser
NM_001351297.1:c.4493C>G	NP_001338226.1:p.Thr1498Ser
NR_147094.1:n.4791C>G
XM_017018197.2:c.4565C>G	XP_016873686.1:p.Thr1522Ser
XM_017018199.1:c.4562C>G	XP_016873688.1:p.Thr1521Ser
XM_017018201.2:c.4461C>G	XP_016873690.1:p.Asp1487Glu
XM_017018202.1:c.3062C>G	XP_016873691.1:p.Thr1021Ser
XM_017018204.1:c.2453C>G	XP_016873693.1:p.Thr818Ser
XM_024448668.1:c.2864C>G	XP_024304436.1:p.Thr955Ser
XR_001747945.2:n.4533C>G
XR_001747946.2:n.4464C>G
XR_002957189.1:n.6247C>G
NM_000352.6:c.4496C>G MANE Select	NP_000343.2:p.Thr1499Ser
NM_001287174.2:c.4499C>G	NP_001274103.1:p.Thr1500Ser
NM_001351295.2:c.4562C>G	NP_001338224.1:p.Thr1521Ser
NM_001351296.2:c.4496C>G	NP_001338225.1:p.Thr1499Ser
NM_001351297.2:c.4493C>G	NP_001338226.1:p.Thr1498Ser
NR_147094.2:n.4791C>G
NM_001287174.3:c.4499C>G	NP_001274103.1:p.Thr1500Ser